Canonical Allele Identifier: CA915942397

Gene: MLH1

Linked Data

• ClinVar Variation Id: 820800
• ClinVar RCV Id: RCV001014598
• dbSNP Id: rs1575373697
• gnomAD v4: 3-36993332-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993334del , CM000665.2:g.36993334del	GRCh38
NC_000003.11:g.37034825del , CM000665.1:g.37034825del	GRCh37
NC_000003.10:g.37009829del	NCBI36
NG_007109.2:g.4985del , LRG_216:g.4985del
NG_008418.1:g.4972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673673.2:c.-214del	ENSP00000500979.2:n.-214del
ENST00000231790.6:c.-214del	ENSP00000231790.2:n.-214del